SDHD gene mutation in Mexican population with carotid body tumor
نویسندگان
چکیده
منابع مشابه
Carotid body paraganglioma and SDHD mutation in a Greek family.
BACKGROUND Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs). MATERIALS AND METHODS We studi...
متن کاملCerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation.
Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally. We present the first reported case of a patient with a CPA tumor and a...
متن کاملMalignant carotid body tumor.
CASE PRESENTATION A 38-year-old woman initially presented with a 3-week history of decreased hearing in the left ear. Evaluationrevealedaleftserousotitismedia,withno evidenceofanasopharyngealmass.Shewastreated forallergicrhinitis,withsubsequentresolutionofher serous effusion. During the third trimester of her subsequent pregnancy, she noted a progressive globussensationandleft-sidedintermittent...
متن کاملParaganglioma: Carotid Body Tumor
Extra-adrenal paragangliomas are neoplasms of the paraganglia located within the paravertebral sympathetic and parasympathetic chains. Thus paragangliomas may arise anywhere along these tracts and common sites of occurrence include abdomen, retroperitoneum, chest and mediastinum and various head and neck locations such as jugulotympanic membrane, orbit, nasopharynx, larynx, vagal body and carot...
متن کاملCarotid Body Tumor.
INTRODUCTION The carotid body tumour was first described by von Haller in 1743. The first two, unsuccessfully surgically treated carotid body tumours, were done by Reinger in 1880 (his patient died), and by Maydel in 1886 (his patient developed hemiplegia). Scudder made the first successful surgical removal of the carotid body tumour in 1903. Using data from the Cologne (Germany) Medline Resear...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cirugía y Cirujanos (English Edition)
سال: 2019
ISSN: 2444-0507
DOI: 10.24875/cirue.m18000005